Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Abstract Background Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10), and an interstitial deletion of the long arm of chromosome 20, del (20...

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Main Authors: Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino, Franco Locatelli, Emanuela Maserati, Francesco Pasquali, Roberto Valli
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Molecular Cytogenetics
Subjects:
Shwachman-diamond syndrome
Expression analysis
Clonal chromosome anomalies in bone marrow
EIF6 gene
Risk of MDS/AML
Somatic genetic rescue
Online Access:https://doi.org/10.1186/s13039-019-0466-9

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https://doi.org/10.1186/s13039-019-0466-9

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